Global Code Book Ontology

Last uploaded: May 2, 2024
Preferred Name

skeletal dysplasia
Synonyms

primary osteodysplasia

Mendelian skeletal dysplasia

primary bone dysplasia

primary skeletal dysplasia

Definitions

Any Mendelian diseases that affects growth and development of the skeleton.

ID

http://purl.obolibrary.org/obo/MONDO_0018230

exactMatch

http://www.orpha.net/ORDO/Orphanet_364526

has characteristic

http://purl.obolibrary.org/obo/MONDO_0021136

hasDbXref

Orphanet:364526

GARD:21567

hasExactSynonym

primary osteodysplasia

Mendelian skeletal dysplasia

primary bone dysplasia

primary skeletal dysplasia

IAO_0000115

Any Mendelian diseases that affects growth and development of the skeleton.

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4995

id

MONDO:0018230

inSubset

http://purl.obolibrary.org/obo/mondo#rare

http://purl.obolibrary.org/obo/mondo#orphanet_rare

http://purl.obolibrary.org/obo/mondo#gard_rare

http://purl.obolibrary.org/obo/mondo#disease_grouping

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders

label

skeletal dysplasia

notation

MONDO:0018230

prefLabel

skeletal dysplasia

excluded_subClassOf

http://purl.obolibrary.org/obo/MONDO_0015958

http://purl.obolibrary.org/obo/MONDO_0018457

http://purl.obolibrary.org/obo/MONDO_0005497

subClassOf

http://purl.obolibrary.org/obo/MONDO_0005381

http://purl.obolibrary.org/obo/MONDO_0003847

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0018230 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 MONDO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 KTAO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 OBA SAME_URI
http://purl.obolibrary.org/obo/MONDO_0018230 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0018230 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018230 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018230 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018230 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0018230 OBA LOOM
http://www.radlex.org/RID/RID34679 RADLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0410528 OCHV LOOM
http://www.phoc.org.cn/pmo/class/PMO_00013956 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/HP_0002652 CCONT LOOM
http://purl.obolibrary.org/obo/HP_0002652 EFO LOOM
http://purl.obolibrary.org/obo/HP_0002652 DOID LOOM
http://purl.obolibrary.org/obo/HP_0002652 EFO LOOM
http://purl.obolibrary.org/obo/HP_0002652 HP LOOM
http://purl.obolibrary.org/obo/HP_0002652 HHEAR LOOM
http://purl.obolibrary.org/obo/HP_0002652 DDSS LOOM
http://purl.obolibrary.org/obo/HP_0002652 UPHENO LOOM
http://purl.obolibrary.org/obo/HP_0002652 NIFSTD LOOM
http://purl.obolibrary.org/obo/HP_0002652 OBA LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/105986008 SNOMEDCT LOOM
http://radlex.org/RID/RID34679 RADLEX LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#32821 OCHV LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Skeletal_dysplasia RPO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10072610 MEDDRA LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU042509 OMIM LOOM
http://purl.bioontology.org/ontology/RCD/X70BZ RCD LOOM
http://purl.org/obo/owl/HP#HP_0002652 BDO LOOM
rgo:20026 GAMUTS LOOM